SGSH explained

N-sulphoglucosamine sulphohydrolase is an enzyme that in humans is encoded by the SGSH gene.^{[1] [2]}

Clinical significance

A number sign (#) is used with this entry because the phenotype is caused by mutation in the gene encoding N-sulfoglucosamine sulfohydrolase (SGSH; MIM 605270). The Sanfilippo syndrome, or mucopolysaccharidosis III, is a lysosomal storage disease due to impaired degradation of heparan sulfate.^[3] MPS III includes 4 types, each due to the deficiency of a different enzyme: heparan N-sulfatase (type A); alpha-N-acetylglucosaminidase (type B; MIM 252920); acetyl CoA:alpha-glucosaminide acetyltransferase (type C; MIM 252930); and N-acetylglucosamine 6-sulfatase (type D; MIM 252940). The Sanfilippo syndrome is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. Type A has been reported^[4] to be the most severe, with earlier onset and rapid progression of symptoms and shorter survival.^[2]

Further reading

• Yogalingam G, Hopwood JJ . Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications . Human Mutation . 18 . 4 . 264–81 . Oct 2001 . 11668611 . 10.1002/humu.1189 . 25731955 . free .
• van de Kamp JJ, Niermeijer MF, von Figura K, Giesberts MA . Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C) . Clinical Genetics . 20 . 2 . 152–60 . Aug 1981 . 6796310 . 10.1111/j.1399-0004.1981.tb01821.x . 24826103 .
• Maruyama K, Sugano S . Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides . Gene . 138 . 1–2 . 171–4 . Jan 1994 . 8125298 . 10.1016/0378-1119(94)90802-8 .
• Karageorgos LE, Guo XH, Blanch L, Weber B, Anson DS, Scott HS, Hopwood JJ . Structure and sequence of the human sulphamidase gene . DNA Research . 3 . 4 . 269–71 . Aug 1996 . 8946167 . 10.1093/dnares/3.4.269 . free .
• Blanch L, Weber B, Guo XH, Scott HS, Hopwood JJ . Molecular defects in Sanfilippo syndrome type A . Human Molecular Genetics . 6 . 5 . 787–91 . May 1997 . 9158154 . 10.1093/hmg/6.5.787 . free .
• Weber B, Guo XH, Wraith JE, Cooper A, Kleijer WJ, Bunge S, Hopwood JJ . Novel mutations in Sanfilippo A syndrome: implications for enzyme function . Human Molecular Genetics . 6 . 9 . 1573–9 . Sep 1997 . 9285796 . 10.1093/hmg/6.9.1573 . free .
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S . Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library . Gene . 200 . 1–2 . 149–56 . Oct 1997 . 9373149 . 10.1016/S0378-1119(97)00411-3 .
• Bunge S, Ince H, Steglich C, Kleijer WJ, Beck M, Zaremba J, van Diggelen OP, Weber B, Hopwood JJ, Gal A . Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A) . Human Mutation . 10 . 6 . 479–85 . 1998 . 9401012 . 10.1002/(SICI)1098-1004(1997)10:6<479::AID-HUMU10>3.0.CO;2-X . 41252897 . free .
• Bielicki J, Hopwood JJ, Melville EL, Anson DS . Recombinant human sulphamidase: expression, amplification, purification and characterization . The Biochemical Journal . 329 . Pt 1 . 145–50 . Jan 1998 . 9405287 . 1219025 . 10.1042/bj3290145.
• Di Natale P, Balzano N, Esposito S, Villani GR . Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations . Human Mutation . 11 . 4 . 313–20 . 1998 . 9554748 . 10.1002/(SICI)1098-1004(1998)11:4<313::AID-HUMU9>3.0.CO;2-P . 22780764 .
• Weber B, van de Kamp JJ, Kleijer WJ, Guo XH, Blanch L, van Diggelen OP, Wevers R, Poorthuis BJ, Hopwood JJ . Identification of a common mutation (R245H) in Sanfilippo A patients from The Netherlands . Journal of Inherited Metabolic Disease . 21 . 4 . 416–22 . Jun 1998 . 9700599 . 10.1023/A:1005362826552 . 9346499 . free .
• Montfort M, Vilageliu L, Garcia-Giralt N, Guidi S, Coll MJ, Chabás A, Grinberg D . Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients . Human Mutation . 12 . 4 . 274–9 . 1998 . 9744479 . 10.1002/(SICI)1098-1004(1998)12:4<274::AID-HUMU9>3.0.CO;2-F . 23900430 . free .
• Di Natale P, Villani GR, Esposito S, Balzano N, Filocamo M, Gatti R . Prenatal diagnosis of sanfilippo type A syndrome in a family with S66W mutant allele . Prenatal Diagnosis . 19 . 10 . 993–4 . Oct 1999 . 10521831 . 10.1002/(SICI)1097-0223(199910)19:10<993::AID-PD661>3.0.CO;2-L . 28276965 .
• Esposito S, Balzano N, Daniele A, Villani GR, Perkins K, Weber B, Hopwood JJ, Di Natale P . Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects . Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease . 1501 . 1 . 1–11 . Apr 2000 . 10727844 . 10.1016/s0925-4439(99)00118-0 . free .
• Chabás A, Montfort M, Martínez-Campos M, Díaz A, Coll MJ, Grinberg D, Vilageliu L . Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: possible single origin for 1091delC mutation . American Journal of Medical Genetics . 100 . 3 . 223–8 . May 2001 . 11343308 . 10.1002/ajmg.1248 .
• Emre S, Terzioglu M, Tokatli A, Coskun T, Ozalp I, Weber B, Hopwood JJ . Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B . Human Mutation . 19 . 2 . 184–5 . Feb 2002 . 11793481 . 10.1002/humu.9009 . 35508263 . free .
• Di Natale P, Villani GR, Di Domenico C, Daniele A, Dionisi Vici C, Bartuli A . Analysis of Sanfilippo A gene mutations in a large pedigree . Clinical Genetics . 63 . 4 . 314–8 . Apr 2003 . 12702166 . 10.1034/j.1399-0004.2003.00053.x . 39262556 .

Notes and References

1. Scott HS, Blanch L, Guo XH, Freeman C, Orsborn A, Baker E, Sutherland GR, Morris CP, Hopwood JJ . Grant Robert Sutherland . Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome . Nature Genetics . 11 . 4 . 465–7 . Dec 1995 . 7493035 . 10.1038/ng1295-465 . 25869397 .
2. Web site: Entrez Gene: SGSH N-sulfoglucosamine sulfohydrolase (sulfamidase).
3. Esposito S, Balzano N, Daniele A, Villani GR, Perkins K, Weber B, Hopwood JJ, Di Natale P . Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects . Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease . 1501 . 1 . 1–11 . Apr 2000 . 10727844 . 10.1016/s0925-4439(99)00118-0 . free .
4. van de Kamp JJ, Niermeijer MF, von Figura K, Giesberts MA . Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C) . Clinical Genetics . 20 . 2 . 152–60 . Aug 1981 . 6796310 . 10.1111/j.1399-0004.1981.tb01821.x . 24826103 .